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Article

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.

Human genetics - 1 Nov 2020

Ufartes Roser, Berger Hanna, Till Katharina, Salinas Gabriela, Sturm Marc, Altmüller Janine, Nürnberg Peter, Thiele Holger, Funke Rudolf, Apeshiotis Neophytos, Langen Hendrik, Wollnik Bernd, Borchers Annette, Pauli Silke

Abstract excerpt

We report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. The function of FBRSL1 is largely unknown. Interestingly, mutations in the FBRSL1 paralogue AUTS2 lead to an intellectual disability syndrome (AUTS2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32424618
DOI: 10.1007/s00439-020-02175-x
PMCID: PMC7519918

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